Variant report

Variant	esv3406456
Chromosome Location	chr10:56134696-56138244
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528556756	chr10:56137005-56137006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12247218	chr10:56137073-56137074	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs571286077	chr10:56137105-56137106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537770243	chr10:56137122-56137123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550957144	chr10:56137146-56137147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12761151	chr10:56137187-56137188	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs148086993	chr10:56137192-56137193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs80234738	chr10:56137202-56137203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573012834	chr10:56137223-56137224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538719443	chr10:56137284-56137285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558610057	chr10:56137305-56137306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369764962	chr10:56137364-56137365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150229738	chr10:56137388-56137389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575099320	chr10:56137401-56137402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570561926	chr10:56137411-56137412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138788830	chr10:56137436-56137437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73249913	chr10:56137486-56137487	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs574674190	chr10:56137632-56137633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76777712	chr10:56137633-56137634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540095852	chr10:56137641-56137642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556363566	chr10:56137645-56137646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114133643	chr10:56137650-56137651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528592497	chr10:56137658-56137659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7922308	chr10:56137672-56137673	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs564952670	chr10:56137674-56137675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7911487	chr10:56137719-56137720	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs146250110	chr10:56137735-56137736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567909553	chr10:56137738-56137739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536940000	chr10:56137747-56137748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547246898	chr10:56137758-56137759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182308072	chr10:56137770-56137771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140777867	chr10:56137794-56137795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538757399	chr10:56137840-56137841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558648518	chr10:56137894-56137895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568840395	chr10:56137929-56137930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572342051	chr10:56137960-56137961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537491732	chr10:56137963-56137964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554542170	chr10:56137967-56137968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574677811	chr10:56137978-56137979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540115677	chr10:56138002-56138003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201284925	chr10:56138006-56138007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188152868	chr10:56138024-56138025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs56244838	chr10:56138070-56138071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs398013514	chr10:56138079-56138080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs137988173	chr10:56138144-56138145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs74136134	chr10:56138166-56138167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192737387	chr10:56138197-56138198	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Intellectual disability	21948486	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56137000-56138200	Enhancers	Fetal Kidney	kidney

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